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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
coloboma
Summary
- Synonym
-
- coloboma of eye
- coloboma of macula
- congenital ocular coloboma
- Definition
- An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
- Super Class
- eye disease
External Links
- Disease Ontology
- DOID:12270
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3912 | LAMB1 | laminin subunit beta 1 | |
| 6297 | SALL2 | spalt like transcription factor 2 | |
| 7855 | FZD5 | frizzled class receptor 5 | |
| 8643 | PTCH2 | patched 2 | |
| 10413 | YAP1 | Yes1 associated transcriptional regulator | |
| 22873 | DZIP1 | DAZ interacting zinc finger protein 1 | |
| 91147 | TMEM67 | transmembrane protein 67 |
